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Kevin X. Liu Eileen M. Duggan Alyaa Al‐Ibraheemi Raja Shaikh Denise M. Adams 《Pediatric blood & cancer》2019,66(1)
Epithelioid hemangioma (EH) is a rare benign vascular tumor that occurs in soft tissues and bone and presents between the third and sixth decades of life. Little is known about the clinical course and outcomes of pediatric EH. We report 11 patients diagnosed with EH at a median age of 14.4 years. One patient treated with interferon and one with sirolimus exhibited partial response for >2 years. Although a benign neoplasm, EH is difficult to manage without standard protocols and portends considerable morbidity. Our findings suggest medical management, particularly sirolimus, may benefit these patients; however, long‐term follow‐up is needed. 相似文献
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Adrienne Elisabeth van der Hoeven Rolf Fronczek Mink Sebastian Schinkelshoek Frederik Willem Cornelis Roelandse Jaap Adriaan Bakker Sebastiaan Overeem Denise Bijlenga Gert Jan Lammers 《Sleep》2022,45(5)
Study ObjectivesThe diagnosis of narcolepsy type 1 (NT1) is based upon the presence of cataplexy and/or a cerebrospinal fluid (CSF) hypocretin-1/orexin-A level ≤ 110 pg/mL. We determined the clinical and diagnostic characteristics of patients with intermediate hypocretin-1 levels (111–200 pg/mL) and the diagnostic value of cataplexy characteristics in individuals with central disorders of hypersomnolence.MethodsRetrospective cross-sectional study of 355 people with known CSF hypocretin-1 levels who visited specialized Sleep-Wake Centers in the Netherlands. For n = 271, we had full data on cataplexy type (“typical” or “atypical” cataplexy).ResultsCompared to those with normal hypocretin-1 levels (>200 pg/mL), a higher percentage of individuals with intermediate hypocretin-1 levels had typical cataplexy (75% or 12/16 vs 9% or 8/88, p < .05), and/or met the diagnostic polysomnographic (PSG) and Multiple Sleep Latency Test (MSLT) criteria for narcolepsy (50 vs 6%, p < .001). Of those with typical cataplexy, 88% had low, 7% intermediate, and 5% normal hypocretin-1 levels (p < .001). Atypical cataplexy was also associated with hypocretin deficiency but to a lesser extent. A hypocretin-1 cutoff of 150 pg/mL best predicted the presence of typical cataplexy and/or positive PSG and MSLT findings.ConclusionIndividuals with intermediate hypocretin-1 levels or typical cataplexy more often have outcomes fitting the PSG and MSLT criteria for narcolepsy than those with normal levels or atypical cataplexy. In addition, typical cataplexy has a much stronger association with hypocretin-1 deficiency than atypical cataplexy. We suggest increasing the NT1 diagnostic hypocretin-1 cutoff and adding the presence of clearly defined typical cataplexy to the diagnostic criteria of NT1. Clinical trial information: This study is not registered in a clinical trial register, as it has a retrospective database design. 相似文献
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2'-deoxyguanosine, 2'-deoxycytidine, and 2'-deoxyadenosine adducts resulting from the reaction of tetrahydrofuran with DNA bases 总被引:1,自引:0,他引:1
Hermida SA Possari EP Souza DB de Arruda Campos IP Gomes OF Di Mascio P Medeiros MH Loureiro AP 《Chemical research in toxicology》2006,19(7):927-936
A recent study showed that tetrahydrofuran (THF), a widely used solvent, is carcinogenic in experimental animals. Despite its carcinogenic activity, there is a paucity of information regarding cellular toxicity, biomolecular damage, and genotoxicity induced by THF. We describe here the structural characterization of adducts produced by the reaction of oxidized THF with 2'-deoxyguanosine (dGuo-THF 1 and dGuo-THF 2), 2'-deoxyadenosine (dAdo-THF), and 2'-deoxycytidine (dCyd-THF). Adducts were isolated from in vitro reactions by reverse-phase HPLC and fully characterized on the basis of spectroscopic measurements. The stable derivatives obtained by the reduction of adducts with NaBH(4) (the case of dGuo-THF 1, dCyd-THF, and dAdo-THF) and the stable adduct dGuo-THF 2 were used as standards for optimization of chromatographic separations for adduct detection in DNA through HPLC/ESI/MS-MS. Using this methodology, we successfully detected the four adducts in calf thymus DNA reacted with oxidized THF. The present study also provides evidence that rat liver microsomal monooxigenases oxidize THF to the reactive electrophilic compounds that are able to damage the DNA molecule, as indicated by a significant increase in adduct dGuo-THF 1 level when NADPH was added to the THF/microsomes/dGuo incubation mixtures. Our data point to DNA-THF adducts as possible contributing factors to the toxicological effects of THF exposure. 相似文献
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CONCLUSION: CoQ 10 may be helpful in delaying the progression of hearing loss in patients with the 7445A-->G mitochondrial mutation. Objective. To assess the effect of an antioxidant drug (Coenzyme Q-10) on the hearing level of patients with the mitochondrial DNA 7445A-->G mutation and associated sensorineural hearing loss (SNHL). Material and methods. We identified three patients with bilateral non-syndromic SNHL harboring the mitochondrial 7445A-->G mutation. Two patients had a family history of hearing loss with a strong matrilineal inheritance. The other patient did not have a family history of hearing loss. Two patients (1 with familial and 1 with sporadic SNHL) received treatment with 75 mg of Coenzyme Q-10 (CoQ10) twice a day for 1 year. The remaining patient with a familial form of hearing loss did not agree to take the treatment. Average bone conduction pure-tone thresholds for 0.5, 1, 2 and 4 kHz were obtained before and after diagnosis of mitochondrial hearing loss, and before and after treatment with CoQ10. Results. CoQ10-treated patients did not show any additional deterioration of their SNHL after 12 (familial case) and 13 months (sporadic case). The progression rate of SNHL was 6 dB/year in the 2 years prior to initiation of treatment in the familial case who received CoQ10 treatment. One year after being diagnosed with mitochondrial hearing loss, the patient who refused CoQ10 treatment exhibited an 11-dB deterioration of his hearing thresholds. There were no side-effects related to treatment with CoQ10. 相似文献
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Consumption of vegetables and fruits and risk of subtypes of head–neck cancer in the Netherlands Cohort Study 下载免费PDF全文
Denise H.E. Maasland Piet A. van den Brandt Bernd Kremer R. Alexandra Goldbohm Leo J. Schouten 《International journal of cancer. Journal international du cancer》2015,136(5):E396-E409
There is limited prospective data on the relationship between consumption of vegetables and fruits and the risk of head–neck cancer (HNC) subtypes [i.e., oral cavity cancer (OCC), oro‐/hypopharyngeal cancer (OHPC) and laryngeal cancer (LC)]. Therefore, we investigated these associations within the Netherlands Cohort Study, in which 120,852 participants completed a 150‐item food frequency questionnaire at baseline in 1986. After 20.3 years of follow‐up, 415 cases of HNC (131 OCC, 88 OHPC, three oral cavity/pharynx unspecified or overlapping and 193 LC) and 3,898 subcohort members were available for case–cohort analysis using Cox proportional hazards models. Total vegetable and fruit consumption was inversely associated with risk of HNC overall [multivariable‐adjusted rate ratios for highest vs. lowest quartile: 0.61, 95% confidence interval (CI) 0.44–0.85, p trend 0.002] and all HNC subtypes, with the strongest associations for OCC. Total vegetable intake and total fruit intake were also associated with a decreased risk of HNC overall and HNC subtypes. No significant interaction was found between vegetable and fruit intake and alcohol consumption or cigarette smoking. In conclusion, in this large‐scale cohort study, consumption of vegetables and fruits was associated with a decreased risk of HNC overall and all subtypes. Consumption of vegetables and fruits (or of specific groups of them) may protect against HNC and its subtypes. 相似文献
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